Monthly Archives: July 2014

We are pleased to announce the release of our new de novo assembler suitable for large genomes up to human size. This is an early release and should be considered experimental, but is fully functioning. Download it now.

Our new assembler, called DISCOVAR de novo (experimental), uses the same cheap data that the original DISCOVAR release does: 250 base paired-end PCR-free Illumina reads. No other libraries are required. The runtime for a human genome on a 48 core, 0.5 Tb server is only 36 hours, and produces an assembly with a contig N50 of ~100 kb.

We are actively developing DISCOVAR de novo, so check back often for updates.

DISCOVAR can now be freely used without restriction in both non-academic and academic settings under the terms of our new license. We still encourage users to register with us if they find DISCOVAR useful.

We’ve just added some examples to our online demo to help you explore our DISCOVAR de novo assembly of NA12878. You can select a region of interest from the new drop down menu and it will be displayed below. Alternatively, enter the coordinates of your favorite region of the genome if you want to explore on your own.

Want a sneak preview of what we’ve been working on lately? Then check out this online demo that lets you explore a de novo human assembly produced by our new assembler DISCOVAR de novo.

Developed over the past 6 months, the new DISCOVAR de novo algorithm will be released later this summer. Unlike DISCOVAR, it can assemble large genomes de novo. It is also much faster, but still takes the same low-cost single-library input data that DISCOVAR does.

Whilst we prepare DISCOVAR de novo for release, take a look at the online demo we’ve set up. Here you can explore and visualize an assembly of the human cell line NA12878. You can enter any coordinates on the human reference sequence GRCh38, and the demo will show you the part of the assembly that aligns there. Using this tool, large structural variation events can be directly visualized, and simple SNPs appear as short bubbles.